Varaico: Literature-Extracted Genetic Variants

Gene:IRF6
Variant:p.N88D
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IRF6

NM_006147.4:p.N88D

Associated Papers

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.

Jeong R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.

Itai T et al.

Hgg Advances, 2024

38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.

Schierz IAM et al.

Italian Journal of Pediatrics, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."